TY - JOUR
T1 - Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
AU - The Consortium for Refractive Error and Myopia
AU - The UK Eye and Vision Consortium
AU - 23andMe Inc.
AU - Hysi, Pirro G.
AU - Choquet, Hélène
AU - Khawaja, Anthony P.
AU - Wojciechowski, Robert
AU - Tedja, Milly S.
AU - Yin, Jie
AU - Simcoe, Mark J.
AU - Patasova, Karina
AU - Mahroo, Omar A.
AU - Thai, Khanh K.
AU - Cumberland, Phillippa M.
AU - Melles, Ronald B.
AU - Verhoeven, Virginie J.M.
AU - Vitart, Veronique
AU - Segre, Ayellet
AU - Stone, Richard A.
AU - Wareham, Nick
AU - Hewitt, Alex W.
AU - Mackey, David A.
AU - Klaver, Caroline C.W.
AU - MacGregor, Stuart
AU - Khaw, Peng T.
AU - Foster, Paul J.
AU - Guggenheim, Jeremy A.
AU - Rahi, Jugnoo S.
AU - Jorgenson, Eric
AU - Hammond, Christopher J.
N1 - Publisher Copyright:
© 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
PY - 2020/4/1
Y1 - 2020/4/1
N2 - Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.
AB - Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.
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U2 - 10.1038/s41588-020-0599-0
DO - 10.1038/s41588-020-0599-0
M3 - Article
C2 - 32231278
AN - SCOPUS:85083042673
SN - 1061-4036
VL - 52
SP - 401
EP - 407
JO - Nature genetics
JF - Nature genetics
IS - 4
ER -